Canonical Allele Identifier: CA354915768

Gene: HPS3

Linked Data

• MyVariant Identifiers: chr3:g.148863243T>A (hg19) ; chr3:g.149145456T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149145456T>A , CM000665.2:g.149145456T>A	GRCh38
NC_000003.11:g.148863243T>A , CM000665.1:g.148863243T>A	GRCh37
NC_000003.10:g.150345933T>A	NCBI36
NG_009847.1:g.20873T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296051.7:c.1073T>A MANE Select	ENSP00000296051.2:p.Val358Asp
ENST00000296051.6:c.1073T>A	ENSP00000296051.2:p.Val358Asp
ENST00000460120.5:c.578T>A	ENSP00000418230.1:p.Val193Asp
ENST00000462030.5:n.1672T>A
ENST00000486530.1:n.1106T>A
NM_001308258.1:c.578T>A	NP_001295187.1:p.Val193Asp
NM_032383.3:c.1073T>A	NP_115759.2:p.Val358Asp
NM_032383.4:c.1073T>A	NP_115759.2:p.Val358Asp
XM_005247834.3:c.1073T>A	XP_005247891.1:p.Val358Asp
XM_006713788.1:c.1073T>A	XP_006713851.1:p.Val358Asp
XR_924201.1:n.1188T>A
XM_005247834.4:c.1073T>A	XP_005247891.1:p.Val358Asp
XM_017007323.2:c.1073T>A	XP_016862812.1:p.Val358Asp
XR_001740326.2:n.1173T>A
XR_001740327.2:n.1173T>A
XR_001740328.2:n.1173T>A
XR_924201.3:n.1173T>A
NM_001308258.2:c.578T>A	NP_001295187.1:p.Val193Asp
NM_032383.5:c.1073T>A MANE Select	NP_115759.2:p.Val358Asp